LMNB2, lamin B2, 84823

N. diseases: 74; N. variants: 3
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1835384
Disease: Loss of truncal subcutaneous adipose tissue
Loss of truncal subcutaneous adipose tissue 		phenotype Finding 3 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		disease Disease or Syndrome 56 6 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0025988
Disease: Microglossia
Microglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 0.100 None 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 78 1 0.100 None 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 88 17 0.100 None 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0 1
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.100 None 0
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.100 None 0
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.100 None 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.100 None 0
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranoproliferative 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 57 3 0.100 None 0
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 0
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.100 None 0
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.100 None 0
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C0033300
Disease: Progeria
Progeria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.020 None 0.500 2 2010 2019
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 14 11 0.030 None 1.000 3 2006 2012
CUI: C0220989
Disease: Acquired partial lipodystrophy
Acquired partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 7 1 0.630 None 1.000 3 1 2006 2012